摘要回顾性分析2020年3月在南京医科大学附属儿童医院诊断的1例 SPEG基因相关先天性肌病患儿的临床资料，并复习相关文献。患儿，女，13岁，自幼运动发育落后，双下肢无力10年，病程缓慢进展，查体步态摇摆，腓肠肌轻度肥大，Gower征阳性，双下肢远端肌力Ⅴ级，近端肌力Ⅳ级。肌电图提示肌源性损害肌电改变。11岁妹妹有类似的肌无力症状。基因测序提示 SPEG基因复合杂合突变，变异位点为c.3715+4C>T和c.3588delC，目前国内外均未见报道。本研究系国内首次报道 SPEG基因相关先天性肌病，且本例患儿与既往报道不同，未出现心肌病表现。本研究扩大了 SPEG基因的突变谱。

abstractsClinical data of a child with congenital myopathy caused by the SPEG gene mutation diagnosed in the Children′s Hospital of Nanjing Medical University in March 2020 were retrospectively analyzed, and the relevant literature was reviewed.A 13-year-old female child with lagged motor development since childhood, weakness of both lower extremities for 10 years, and slow progression of disease.Physical examinations showed gait swinging, mild hypertrophy of gastrocnemius, positive Gower sign, grade Ⅴ distal muscle strength of both lower extremities, and grade Ⅳ proximal muscle strength.The electromyography showed myogenic damage changes.Her 11-year-old sister presented similar symptoms of muscle weakness.Gene sequencing revealed compound heterozygous mutations in the SPEG gene, with the newly reported mutation sites at c. 3715+ 4C>T and c. 3588delC, which had not been reported at home and abroad.This study for the first time reported a case of congenital myopathy caused by the SPEG gene mutation in China, which differed from previous cases accompanied cardiomyopathy.This case report expanded the mutation spectrum of the SPEG gene.